[Diagnosis and Management of Late-Onset Pompe Disease]

Area of Science:

• Biochemistry
• Genetics
• Neurology

Context:

• Pompe disease is a rare lysosomal storage disorder affecting multiple organ systems with diverse symptoms.
• Early diagnosis is challenging due to the wide range of clinical presentations.
• The introduction of enzyme replacement therapy highlights the importance of timely diagnosis.

Purpose:

• To provide an overview of Pompe disease, focusing on the diagnostic challenges of the late-onset type.
• To outline essential aspects of interdisciplinary care for Pompe disease patients.
• To address the psychosocial challenges faced by affected children and their families.

Summary:

• This article reviews Pompe disease, a lysosomal storage disorder with variable onset and symptoms.
• It emphasizes the critical role of early diagnosis through enzyme activity testing and genetic verification.
• Key elements of multidisciplinary care and psychosocial support for patients and families are discussed.

Impact:

• Facilitates earlier and more accurate diagnosis of Pompe disease, particularly the late-onset form.
• Improves understanding of comprehensive care strategies, including psychosocial support.
• Enhances quality of life for individuals with Pompe disease and their families through informed management.